Genetic testing: for the curious or for the concerned?

Mollie Smith, a 22-year old senior at Grand Valley State University in Grand Rapids, Michigan, has different worries than the average college student. Three years ago, her great-aunt was diagnosed with breast cancer. Shortly after, Smith’s great-aunt discovered she had a BRCA2 gene mutation, which increases the chance of developing breast cancer significantly. Since the mutation is genetic, it was recommended that her family be tested as well. At the age of 19, Smith received a life-changing phone call from her doctor, who told her she had a BRCA2 gene mutation, and an 87% chance of developing breast cancer in her lifetime. “It was terrifying,” said Smith. “I had just started attending a major university, I didn’t know anyone, and I had just been diagnosed with this hugely increased risk of cancer.”

Though Smith did not realize it when she was diagnosed, the entire landscape of genetic testing was about to change. According to Joy Larsen Haidle, the 2015 President of the National Society of Genetic Counselors (NSGC), a collision of events happened in 2013 that put genetic mutations in the spotlight. Angelina Jolie, an American actress, publicly announced that she had undergone a double mastectomy due to a BRCA1 mutation. Around that time, the Supreme Court made a decision regarding the company Myriad Genetics, which owned patents on genes such as BRCA1/2. These patents were ruled unconstitutional, and suddenly companies throughout the country gained access to genes. Both Jolie raising awareness and the Supreme Court’s decision making genetic testing more available has accelerated research in the past two years, but also has caused a rush of people wanting to learn more about their genome. “Over the first year, it was exponential growth in numbers of calls, referrals, and patients,” Haidle said. “The growth has now plateaued, but at a significantly higher level.” The number of people curious and concerned about their genetics has reached an all time high, raising complex issues in testing policies.

According to Kara Milliron, a genetic counselor in the Breast and Ovarian Cancer Risk Evaluation Program at the University of Michigan, Smith is part of less than 1% of the population that carries a BRCA1/2 mutation. However, there are numerous other genetic mutations that also increase the chances of breast and ovarian cancer. Sofia Merajver, Director of the Breast and Ovarian Cancer Risk and Evaluation Program, estimates that 10%, or one in every 10 cases of breast cancer can be tied to some genetic mutation.

Despite 10% being a relatively small percentage, high concentrations of people seek NSGC’s services. Some, like Smith, have a strong family history that supports the possibility of a genetic mutation. Others have no history at all, but are curious if genetics could affect their future health. According to Haidle, NSGC is willing to talk to patients without a history of health problems. However, they only administer a genetic test if they have reason to believe a mutation exists.

At the University of Michigan’s Comprehensive Cancer Center, only those who have a strong family history of a disease are tested. “We are not testing the curious,” Merajver said. “In the general population, it [a genetic mutation] would be very rare.” Among high-risk patients, they identify genetic mutations in about 10-20%.

Even with high-risk patients, the Comprehensive Cancer Center recommends getting tested 70-80% of the time. If a patient would not change anything in their life or would not be ready to accept a result, Merajver will not allow them to be tested.

For those who want to test their genetics but don’t meet the criteria, there are other options. 23andMe is a personal genetic company with over a million customers and shipping service to 60 countries. According to Andy Kill, 23andMe’s spokesperson, a customer simply has to purchase a test and send in a sample of their saliva. Within a few weeks, they can view the results of the test online.

There are some complications with this type of testing. “It’s complex because it gives patients risk ratios,” said Milliron. “It’s not data that can be used in a health care setting.” Additionally, interpreting and knowing what to do with the results can be difficult. “The test is only as good as the ability to understand it,” Haidle said.

According to Kill, however, 23andMe has gone through rigorous testing by the Food and Drug Administration (FDA), and is nearly foolproof. They have a 90% user comprehension rate and a 99% accurate reading of genetics.

When a genetic test comes back positive for a mutation, tough decisions have to be made. Kelly Rothe, 22, lost her mother to breast cancer when she was just nine years old. Shortly after, her sister was also diagnosed with breast cancer. Rothe took a genetic test as soon as she turned 18, which revealed what she had suspected: a BRCA gene mutation. Knowing her chances of developing breast cancer were high, she took drastic action and underwent a prophylactic mastectomy when she was just 20 years old.

Though this decision was not easy for Rothe, she made up her mind to get a mastectomy fairly quickly. “I knew it would have to happen sooner or later, and I wasn’t attached to my breasts at all,” she said. “They were the organs that had killed so many people I loved.”

The decision to get tested was not difficult for Smith either. “I didn’t want to live my life not knowing what my future was going to be,” she said. However, she has been hesitant to take any drastic action since she discovered the mutation. For now, she has an MRI and clinical breast exam once a year. When she turns 25, she plans on starting more serious surveillance, and making a plan from there.

Representatives from NSGC, the Comprehensive Cancer Center, and 23andMe can all agree on one thing; the decision to take a genetic test has to be thoroughly thought out and can have huge implications. “It was right for me,” Smith said. “But at the end of the day, it’s a very personal decision.”

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